Canonical Allele Identifier: CA346130083

Gene: HADHA

Linked Data

• ClinVar Variation Id: 1490688
• ClinVar RCV Id: RCV001983859
• dbSNP Id: rs2147762411
• MyVariant Identifiers: chr2:g.26427067T>A (hg19) ; chr2:g.26204198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204198T>A , CM000664.2:g.26204198T>A	GRCh38
NC_000002.11:g.26427067T>A , CM000664.1:g.26427067T>A	GRCh37
NC_000002.10:g.26280571T>A	NCBI36
NG_007121.1:g.45423A>T
NG_007121.2:g.45424A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1086-2A>T MANE Select	ENSP00000370023.3:n.1086-2A>T
ENST00000492433.2:c.1086-2A>T	ENSP00000438039.2:n.1086-2A>T
ENST00000643057.1:c.*977-2A>T	ENSP00000493761.1:n.*977-2A>T
ENST00000643063.1:c.*132-2A>T	ENSP00000495353.1:n.*132-2A>T
ENST00000643233.1:c.*977-2A>T	ENSP00000493880.1:n.*977-2A>T
ENST00000644428.1:c.1086-2A>T	ENSP00000495560.1:n.1086-2A>T
ENST00000645274.1:c.981-2A>T	ENSP00000493996.1:n.981-2A>T
ENST00000646031.1:c.445-2A>T
ENST00000646483.1:c.952-2A>T	ENSP00000496185.1:n.952-2A>T
ENST00000380649.7:c.1086-2A>T	ENSP00000370023.3:n.1086-2A>T
NM_000182.4:c.1086-2A>T	NP_000173.2:n.1086-2A>T
NM_000182.5:c.1086-2A>T MANE Select	NP_000173.2:n.1086-2A>T